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Browsing by Author "Beersum, S.E.C. van"
Now showing items 1-47 of 47
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CiliaCarta: An integrated and validated compendium of ciliary genes Dam, T.J.P. van; Kennedy, J.; Lee, R. van der; ; Wunderlich, K.A.; Rix, S.; Dougherty, G.W.; Lambacher, N.J.; Li, C.; Jensen, V.L.; et al.2019, Article / Letter to editor (PLoS One, vol. 14, iss. 5, (2019), article e0216705)
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Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype Lamers, I.J.C.; ; ; Kraus, A.; Jansen, S; ; Houge, G.; Gradek, G.A.; Seo, J.; Choi, M.; et al.2017, Article / Letter to editor (American Journal of Human Genetics, vol. 101, iss. 5, (2017), pp. 824-832)
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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa Nguyen, T.T.M.; Hull, S.; ; Born, L.I. van den; ; ; ; ; ; ; et al.2017, Article / Letter to editor (Journal of Medical Genetics, vol. 54, iss. 9, (2017), pp. 624-632)
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An organelle-specific protein landscape identifies novel diseases and molecular mechanisms Boldt, K.; ; Lu, Q.; Koutroumpas, K.; Nguyen, T.T.M.; Texier, Y.; ; Horn, N.; Willer, J.R.; ; et al.2016, Article / Letter to editor (Nature Communications, vol. 7, (2016), article 11491)
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Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina Eblimit, A.; Nguyen, T.M.; Chen, Y; Esteve-Rudd, J.; Zhong, H.; ; ; Simons, D.L.; Ding, Q.; Wu, K.M.; et al.2015, Article / Letter to editor (Human Molecular Genetics, vol. 24, iss. 6, (2015), pp. 1584-1601)
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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport Schmidts, M.; Hou, Y.; Cortes, C.R.; ; Huber, C.; Boldt, K.; Patel, M.; ; Plaza, J.M.; ; et al.2015, Article / Letter to editor (Nature Communications, vol. 6, (2015), pp. 7074)
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The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function Lokaj, M.; Kosling, S.K.; Koerner, C.; Lange, S.M.; ; ; ; Horn, N.; Ueffing, M.; Boldt, K.; et al.2015, Article / Letter to editor (Structure with Folding & Design, vol. 23, iss. 11, (2015), pp. 2122-2132)
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KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome Sanders, A.A.; ; Alazami, A.M.; Alzahrani, F.; Malarkey, E.B.; Sorusch, N.; Tebbe, L.; Kuhns, S.; Dam, T.J.P. van; Alhashem, A.; et al.2015, Article / Letter to editor (Genome Biology, vol. 16, iss. 1, (2015), pp. 293)
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NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish Dona, M.; Bachmann-Gagescu, R.; Texier, Y.; Toedt, G.; ; Tonnaer, E.L.; ; ; Bergboer, J.G.M.; Horn, N.; et al.2015, Article / Letter to editor (Plos Genetics, vol. 11, iss. 10, (2015), pp. e1005574)
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The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking Bachmann-Gagescu, R.; Dona, M.A.; ; ; ; ; ; ; Phelps, I.G.; ; et al.2015, Article / Letter to editor (Plos Genetics, vol. 11, iss. 10, (2015), pp. e1005575)
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Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARl 13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain Cevik, S.; Sanders, A.A.; Wijk, E. van; Boldt, K.; Clarke, L.; ; Hori, Y.; Horn, N.; ; Wdowicz, A.; et al.2013, Article / Letter to editor (Plos Genetics, vol. 9, iss. 12, (2013), pp. e1003977)
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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome ; ; ; ; ; ; ; ; ; ; et al.2011, Article / Letter to editor (Journal of Medical Genetics, vol. 48, iss. 6, (2011), pp. 390-395)
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CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Gorden, N.T.; ; Parisi, M.A.; ; ; ; ; Hikida, A.; Eckert, M.; Knutzen, D.; et al.2008, Article / Letter to editor (American Journal of Human Genetics, vol. 83, iss. 5, (2008), pp. 559-571)
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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. ; Doherty, D.; ; Parisi, M.A.; ; Gorden, N.T.; ; Marker, T.; ; Kartono, A.; et al.2007, Article / Letter to editor (Nature Genetics, vol. 39, iss. 7, (2007), pp. 882-888)
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Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. ; Koenekoop, R.K.; Mohamed, M.D.; ; Boldt, K.; Towns, K.V.; Sedmak, T.; Beer, M. de; Nagel-Wolfrum, K.; McKibbin, M.; et al.2007, Article / Letter to editor (Nature Genetics, vol. 39, iss. 7, (2007), pp. 889-895)
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Mutations in the human TBX4 gene cause small patella syndrome. ; ; ; Schoots, J.; ; Burckhardt, A.; ; Losan, F.; ; ; et al.2004, Article / Letter to editor (American Journal of Human Genetics, vol. 74, iss. 6, (2004), pp. 1239-1248)
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p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. ; ; Bamshad, M.; Sangiorgi, E.; Gurrieri, F.; ; Vanmolkot, K.R.; ; ; Celli, J.; et al.2001, Article / Letter to editor (American Journal of Human Genetics, vol. 69, iss. 3, (2001), pp. 481--92)
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Limb Mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27. ; Jung, M.; ; ; Rüschendorf, F.; ; Veenstra, M.; ; ; ; et al.1999, Article / Letter to editor (American Journal of Human Genetics, vol. 64, (1999), pp. 538-546)
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Two divergent types of nerve pathology in patients with different Po mutations in Charcot-Marie-Tooth disease Gabreëls-Festen, A.A.W.M.; Hoogendijk, J.E.; Meijerink, P.H.S.; Gabreëls, F.J.M.; Bolhuis, P.A.; ; Kulkens, T.; Nelis, E.; Jennekens, F.G.I.; Visser, M. de; et al.1996, Article / Letter to editor (Neurology, vol. 47, (1996), pp. 761-765)
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Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease Gabreëls-Festen, A.A.W.M.; Hoogendijk, J.E.; Meijerink, P.H.S.; Gabreëls, F.J.M.; Bolhuis, P.A.; ; Kulkens, T.; Nelis, E.; Jennekens, F.G.I.; Visser, M. de; et al.1996, Article / Letter to editor (Neurology, vol. 47, (1996), pp. 761-765)
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Two divergent types of nerve pathology in patients with different Po mutations in Charcot-Marie-Tooth disease Gabreëls-Festen, A.A.W.M.; Hoogendijk, J.E.; Meijerink, P.H.S.; Gabreëls, F.J.M.; Bolhuis, P.A.; ; Kulkens, T.; Nelis, E.; Jennekens, F.G.I.; Visser, M. de; et al.1996, Article / Letter to editor (Neurology, vol. 47, (1996), pp. 761-765)
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Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus Vikkula, M.; Mariman, E.C.M.; Lui, V.C.H.; Zhidkova, N.I.; Tiller, G.E.; Goldring, M.B.; ; ; ; Ropers, H.-H.; et al.1995, Article / Letter to editor (Cell, vol. 80, iss. 3, (1995), pp. 431-437)
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Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A12 Locus Vikkula, M.; Mariman, E.C.M.; Lui, V.C.H.; Zhidkova, N.I.; Tiller, G.E.; Goldring, M.B.; ; ; ; Ropers, H.H.; et al.1995, Article / Letter to editor (Cell, vol. 80, (1995), pp. 431-437)
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Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A12 Locus Vikkula, M.; ; Lui, V.C.H.; Zhidkova, N.I.; Tiller, G.E.; Goldring, M.B.; ; ; ; Ropers, H.H.; et al.1995, Article / Letter to editor (Cell, vol. 80, (1995), pp. 431-437)
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